Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells.

Despite the adenoids are regularly removed in patients with mucopolysaccharidoses (MPS), the underlying tissue and cellular pathologies remain understudied. We characterized an (immuno)histopathologic and ultrastructural phenotype dominated by lysosomal storage changes in a specific subset of adenotonsillar paracortical cells in 8 MPS patients (3 MPS I, 3 MPS II, and 2 MPS IIIA). These abnormal cells were effectively detected by an antibody targeting the lysosomal membrane tetraspanin CD63. Important, CD63+ storage vacuoles in these cells lacked the monocytes/macrophages lysosomal marker CD68. Such a distinct patterning of CD63 and CD68 was not present in a patient with infantile neurovisceral variant of acid sphingomyelinase deficiency. The CD63+ storage pathology was absent in two MPS I patients who either received enzyme-replacement therapy or underwent hematopoietic stem cells transplantation prior the adenoidectomy. Our study demonstrates novel features of lysosomal storage patterning and suggests diagnostic utility of CD63 detection in adenotonsillar lymphoid tissue of MPS patients.

Hyaluronic acid concentration in the middle ear fluid as an indicator of severity of the secretory otitis in newborns with cleft palate.

The aim of the study was to investigate the hyaluronic acid concentration in middle ear fluid of patients with cleft palate as an indicator of the severity of the disease. Hyaluronic acid was examined in the middle ear fluid of 65 children (48 boys and 17 girls) subjected to cleft lip surgery in neonatal period up to 10 days of age. Patients were divided into 3 groups according to the course of the disease. First group consists of 15 patients with favorable course, second group consist of 25 patients with moderate course, third group included 25 patients with an adverse course. Hyaluronic acid levels were determined by commercially available immunoassay. The concentrations of hyaluronic acid in the middle ear fluid were as follows (mean+SEM): favorable course: 14253+2393 µg/l, moderate course: 7503+1345 µg/l, adverse course: 5905+2393 µg/l. Patients with adverse course and moderate course had significantly decreased hyaluronic acid levels in middle ear fluid compared to the patients with favorable course (P=0.02 and P=0.0018). Hyaluronic acid concentration is related to the course of the disease and the lowest values are most frequent in patients with an adverse course.

Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome.

AIMS: Patients with the Pendred syndrome suffer very often from a hearing loss. They may be good candidates for a cochlear implantation, but unfortunately, due to the fluctuating character of the hearing loss, they may escape such indication. In the study, we compared speech production and speech acquisition in 2 groups of implanted patients: those with the Pendred syndrome, and standard non-syndromic patients. METHODS: Ten patients with Pendred syndrome were analyzed for speech perception and production. The control group consisted of 41 non-syndromic implanted patients. All implantees were scored according to speech perception, speech production, and the sum of both. The data were statistically analyzed. RESULTS: No statistical difference was found in language acquisition and production in implantees with Pendred syndrome when compared to non-syndromic patients with cochlear implants. Nor there was any difference in speech production and acquisition between the 2 compared groups regarding surgical age, time elapsed after surgery, or age during the testing. CONCLUSION: In this study evaluating language and speech production and acquisition, patients with Pendred syndrome who underwent cochlear implants show comparable results to their implanted peers with deafness of a different etiology.

Palatal growth changes in newborns with unilateral and bilateral cleft lip and palate from birth until 12 months after early neonatal cheiloplasty using morphometric assessment.

OBJECTIVES: To compare palatal growth changes in infants with complete unilateral (UCLP) or bilateral (BCLP) cleft lip and palate during the first year of life. MATERIALS AND METHODS: Upper dental arches of 68 neonates with UCLP and BCLP were evaluated using 2D and 3D morphometry based on dental casts obtained in two age categories (T0 before early neonatal cheiloplasty-UCLP 4 ± 3 days, BCLP 6 ± 5 days; T1 before palatoplasty-UCLP 10 ± 2 months, BCLP 12 ± 3 months). RESULTS: Intensive palatal growth was manifested in both directions of the palate. Palatal growth in the anterior direction was not restricted, despite the intercanine (CC´) and anterior (LL´) widths being significantly narrowed in the BCLP group (CC´ p = 0.019, LL´ p = 0.009). The posterior dental arches were significantly enlarged (UCLP p ≤ 0.001; BCLP p ≤ 0.001). The negative effect of cleft severity on palatal length was not confirmed (p = 0.802). Variability of the palate was immense mainly in BCLP infants (T0); however, it decreased in both cleft types, confirming the formative effect of palatal growth leading to alveolar cleft closure (UCLP p ≤ 0.001; BCLP p = 0.006 on the right, 0.005 on the left). CONCLUSIONS: Both analyzed cleft groups (UCLP, BCLP) grew favorably during the first year of life, and the palatal growth was not limited in any direction. CLINICAL RELEVANCE: Geometric morphometry allowed a comprehensive analysis of the palate, which can contribute to the improvement of surgical methods.

Otorhinolaryngological manifestations in 61 patients with mucopolysaccharidosis.

OBJECTIVES: The mucopolysaccharidoses (MPS) are inherited lysosomal storage disorders with multisystemic and highly variable clinical manifestation. ENT symptoms are common and early signs of MPS. The most common ENT diagnoses are chronic/recurrent rhinosinusitis, acute otitis media, otitis media with effusion, hearing loss and airway obstruction. METHODS: A single-centre retrospective chart review of 61 patients (36 M/25F) with different MPS subtypes (MPS I (n = 15), MPS II (n = 10), MPS III (n = 17), MPS IV (n = 15) and MPS VI (n = 4)) was conducted. The age of ENT presentation and frequency of ENT symptoms, surgeries and their distribution among MPS subtypes was studied. The relationship between ENT presentation, first ENT surgery and the age of diagnosis was also evaluated. RESULTS: Median age at the first ENT manifestation was 2.8 years, median age at MPS diagnosis 4.1 years. The great majority of patients (90%) manifested at least one ENT diagnosis; often before the diagnosis of MPS (75%). Chronic/recurrent rhinosinusitis was the most prevalent ENT diagnosis (77%), followed by upper airway obstruction (65%) and hearing loss (53%). Chronic/recurrent rhinosinusitis was the first ENT symptom to appear (median age 2.2 years), followed by otitis media with effusion (3.7 years) and hearing loss (4.5 years). At least one ENT surgery was performed in 57% of patients; in 69% before MPS diagnosis was established. Median age of the first ENT surgery was 4.1 years. ENT symptoms and surgical procedures were earliest present in MPS II. CONCLUSIONS: Our study documents high and early occurrence of various otolaryngologic symptoms in MPS and thus highlights the role of ENT specialist in prompt diagnosis of these rare diseases and their long-term management.

Three-dimensional development of the palate in bilateral orofacial cleft newborns 1 year after early neonatal cheiloplasty: Classic and geometric morphometric evaluation.

OBJECTIVES: The aim of this study was to assess palatal growth in newborns with complete bilateral cleft lip and palate (cBCLP) and bilateral cleft lip and palate with tissue bridges (BCLP + B) 1 year after early neonatal cheiloplasty (ENC). MATERIAL AND METHODS: The methodology was based on classic and morphometric analysis of dental models of newborns with cBCLP or BCLP + B. These analyses included metric analysis, coherent point drift-dense correspondence analysis, superprojection methods, and multivariate statistics. Dental casts were observed in two age categories, which were compared with each other. The first cast was obtained from each patient before ENC (T0, 5 ± 5 days) and the second one prior to palatoplasty (T1, 12 ± 6 months). RESULTS: Fifty-two dental models obtained from 26 newborns with cBCLP and BCLP + B were evaluated. The results showed that over the 12-month period, alveolar clefts were narrowed in both cleft types due to anterior growth combined with the formative effect of suturing. This was confirmed by decreases in the dimensions of the right (T0 9.93 ± 2.80 mm, T1 6.64 ± 2.43 mm; p ≤ 0.003) and left (T0 10.71 ± 4.13 mm, T1 6.69 ± 4.29 mm; p ≤ 0.003) alveolar clefts in cBCLP patients. Similar reductions in alveolar cleft widths occurred on the left side (T0 11.69 ± 4.75 mm, T1 4.34 ± 2.97 mm; p ≤ 0.001) of BCLP + B patients, while on the right side, which was connected by a combined tissue bridge, there was non-significant narrowing of the alveolar cleft (T0 1.61 ± 1.34 mm, T1 1.04 ± 0.70 mm; p = 0.120). The ENC did not restrict posterior palatal growth, meaning that intertuberosity width was extended in cBCLP (T0 32.80 ± 3.15 mm, T1 35.86 ± 2.80 mm; p ≤ 0.001) and in BCLP + B neonates (T0 34.01 ± 2.15 mm, T1 36.21 ± 2.14 mm; p ≤ 0.004). Width and length measurements in the observed groups showed growth tendencies equivalent to those in noncleft or LOP patients. Palatal variability was greater in neonatal cBCLP, but was reduced during the monitored period, approximating that for BCLP + B. Regions with the most notable palatal growth were located primarily at the premaxilla and at the anterior and partially posterior ends of the maxillary segments. CONCLUSION: Early neonatal cheiloplasty had no negative effect on palatal growth in any direction. There was no reduction in the length or width of the palate during the first year of life, nor was there narrowing of the dentoalveolar arch. The formative effect of the operated lip on the anterior part of the palate was confirmed. This, in combination with the favorable growth, lead to closure of the alveolar cleft.

Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).

Mutations in SLC26A4 cause Pendred syndrome (PS) - hearing loss with goitre - or DFNB4 - non-syndromic hearing loss (NSHL) with inner ear abnormalities such as Enlarged Vestibular Aqueduct (EVA) or Mondini Dysplasia (MD). We tested 303 unrelated Czech patients with early hearing loss (298 with NSHL and 5 with PS), all GJB2-negative, for SLC26A4 mutations and evaluated their clinical and radiological phenotype. Among 115 available HRCT/MRI scans we detected three MD (2.6%), three Mondini-like affections (2.6%), 16 EVA (13 bilateral - 19.2% and 15.6% respectively) and 61 EVA/MD-negative scans (73.4%). We found mutation(s) in 26 patients (8.6%) and biallelic mutations in eight patients (2.7%) out of 303 tested. In 18 of 26 (69%) patients, no second mutation could be detected even using MLPA. The spectrum of SLC26A4 mutations in Czech patients is broad without any prevalent mutation. We detected 21 different mutations (four novel). The most frequent mutations were p.Val138Phe and p.Leu445Trp (18% and 8.9% of pathogenic alleles respectively). Among 13 patients with bilateral EVA, six patients (50%) carry biallelic mutations. In EVA -negative patients no biallelic mutations were found but 4.9% had monoallelic mutations. SLC26A4 mutations are present mostly in patients with EVA/MD and/or progressive HL and those with affected siblings.

Bacterial infection complications in children with cochlear implants in the Czech Republic.

OBJECTIVE: Studies describing wound infections after cochlear implantation are rare. Meticulous operative techniques and sufficient surgical skill can help to avoid severe postoperative complications. Minor complications such as seromas, superficial wound infections, skin emphysema, and swelling can all be successfully treated using conservative methods. Serious problems, however, could be caused by Pseudomonas aeruginosa and Staphylococcus aureus infections. STUDY DESIGN: Retrospective case series. SETTING: Pediatric cochlear implant center in the Czech Republic. RESULTS: In our cohort of 360 children operated on between 1994 and 2009, there were no major surgical complications. However, there were four serious wound infections, two of which resulted in explantation of the device. Two patients with a well-bordered abscess formation were successfully treated with antibiotics and drainage. Explantation was required in another two children with refractory P. aeruginosa infection. Despite favorable sensitivity to a number of antibiotics, intravenous and intensive local treatment failed. After explantation, the operative sites healed immediately. Both children were successfully implanted contralaterally 6 months later. Detailed bacteriological tests from different parts of the device were performed. CONCLUSION: The consequences of explantation were discussed in our cochlear implant center. Confirmed by the microbiological results and reports in the scientific literature, it seems preferable to cut the electrode near the cochlear array and leave it inside the cochlea in order to use the same ear for reimplantation at a later date.

Corrosive injury of the oesophagus in children.

OBJECTIVE: This study examined a cohort of pediatric patients treated for suspected corrosive injury of the oesophagus in the ENT department between 1994 and 2003. METHODS: During the study period we examined 337 patients. All patients were treated according to an individual diagnostico-therapeutic protocol that included: foremost, early rigid oesophagoscopy; intensive medical therapy; nasogastric tube placement; and/or surgical intervention. RESULTS: Our proposed system of grading on a scale from 0 to 4 was used to classify the findings upon oesophagoscopy. One hundred eighty eight patients (55.7%) had a negative exam; 1st degree corrosive injury was present in 58 patients (17.4%); 2nd and 3rd degree injury in 81 patients (24%); and 4th degree was found in 10 patients (3%). CONCLUSIONS: Because the endoscopic findings were positive in 44% of patients with suspected corrosive injury, early rigid oesophagoscopy is indicated in all patients suspected of having corrosive injury even in the absence of clinical symptoms.

Corrosive oesophagitis in children following ingestion of sodium hydroxide granules--a case report.

Over the past few years, the ENT clinic in Motol has noticed an alarming increase in the number of cases of severe upper GIT injury in children, in the majority of cases caused by accidental ingestion of corrosives. Suicidal and homicidal cases in the paediatric population are rare. The following case study describes an interesting episode involving ingestion of granules of the lye NaOH in 13 children of school age. We furthermore stress the importance of early endoscopic investigation in every patient with possible corrosive injury of the oesophagus. We include a brief description of the diagnostico-therapeutic algorithm applied to each such patient that was developed through interdepartmental research in Motol Faculty Hospital.

Corrosive oesophagitis in children following ingestion of sodium hydroxide granules--a case report.

Over the past few years, the ENT clinic in Motol has noticed an alarming increase in the number of cases of severe upper GIT injury in children, in the majority of cases caused by accidental ingestion of corrosives. Suicidal and homicidal cases in the paediatric population are rare. The following case study describes an interesting episode involving ingestion of granules of the lye NaOH in 13 children of school age. We furthermore stress the importance of early endoscopic investigation in every patient with possible corrosive injury of the oesophagus. We include a brief description of the diagnostico-therapeutic algorithm applied to each such patient that was developed through interdepartmental research in Motol Faculty Hospital.